Approved Research

Development of Polygenic Risk Scores for Early Detection of Under-diagnosed Diseases: Type 1 Diabetes, Endometriosis, Sleep Apnea, Multiple Sclerosis, Epilepsy, etc.

Lay summary

Under-diagnosed diseases, such as Type 1 diabetes, endometriosis, and sleep apnea, can have severe health consequences if not detected and treated early. In this project, we aim to develop genetic prediction models called Polygenic Risk Scores (PRS) to help identify individuals at high risk of developing these diseases. Using the large dataset provided by the UK Biobank, we will investigate the genetic factors contributing to these conditions and create PRS models to predict the likelihood of developing each disease.

Our project will use advanced statistical methods to evaluate the performance of these PRS models, ensuring they provide accurate and reliable predictions. Once we have developed and validated the PRS models, we will explore their potential applications in clinical settings, such as integrating them into diagnostic support tools. These tools could help doctors and patients make more informed decisions about further testing and treatment options, leading to more accurate diagnoses and improved health outcomes.

This research project is expected to last for approximately three years. We anticipate that our work will have a significant public health impact by contributing to the development of innovative diagnostic tools that can help detect under-diagnosed diseases earlier and more accurately. By improving the early detection and management of Under-diagnosed diseases, we can help patients receive appropriate care sooner, potentially improving their quality of life and reducing the burden on healthcare systems.